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Genomics Week in Brief: Week ending 23rd February

What’s been going on in the genomics world this week? We’ve collated the biggest news from the last seven days, so you only need to look in one place!

How can genetics be used to predict disease risk?

  • Researchers have optimised polygenic risk scores for 10 common illnesses in a bid to move this form of disease risk prediction into the clinic (Nature Medicine).
  • The largest GWAS exploring type 2 diabetes risk to date has linked hundreds of variants to the disease, including 145 that had never been previously found (Nature).
  • A study of gene expression signatures in children with appendicitis has revealed four genetic biomarkers that can be used to predict disease severity (JAMA Paediatrics).

Researchers have made new discoveries about male fertility…

  • Researchers have identified a new target for a male contraceptive, which disrupts sperm production in a non-hormonal and reversible manner (PNAS).
  • A protein that is vital to the development of sperm has been identified, which is believed to play a crucial role in gene regulation and heterochromatin organisation. This could shed new light on factors impacting male fertility (Genes and Development).

Results from the All of Us program, a large-scale US genomics initiative, were published this week…

  • An analysis of data from 100,000 All of Us participants from different ancestry groups has revealed new information about the frequency of pathogenic variation in genes linked to diseases such as cancer (Communications Biology).
  • Researchers have identified over 275 million new genetic variants in data from over 250,000 All of Us participants, half of whom are of non-European ancestry (NIH).

We’ve seen the potential of new tech this week…

  • A team of scientists has released a new tool, OMArk, which can perform a quality assessment of gene repertoire annotations and can assess the completeness of gene sets (Nature Biotechnology).
  • Researchers have discovered that a retrotransposon from birds could be used to safely make insertions into the human genome, without damaging other genes. Should the technique make it to the clinic, it could be used to treat diseases that cannot be cured using current techniques (Nature Biotechnology).
  • Scientists have developed a new method to test blood samples for pathogens, called digital DNA melting analysis, which can provide results quicker than the current standard culturing methods. This technique could transform the way bacterial infections are treated by preventing the unnecessary prescription of antibiotics (Journal of Molecular Diagnostics).

What else has been in the news in the last seven days?

  • A large-scale analysis of high-quality genome data from hundreds of butterflies and moths reveals that their DNA has remained largely unchanged over millions of years of evolution, despite the divergence of hundreds of thousands of species (Nature Ecology and Evolution).
  • Want to look after your heart and your hair? New research has revealed that the drug finasteride, commonly used to stop hair loss, can also lower cholesterol levels and subsequent cardiovascular disease risk (Journal of Lipid Research).
  • A new study has proven that mutations in the gene encoding the Trabid protein lead to microcephaly due to impaired neuronal development (eLife).

Check out last week’s Week in Brief here.